| General information of RDP00405 | |
|---|---|
| Gene Symbol: | KCND3 |
| RefSeq ID: | NM_004980 |
| Repeat coordinate: | chr1:111846418-111846454 (-) |
| Repeat size: | 12 |
| Repeat region: | intron |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.007; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Spinocerebellar ataxia 19, 607346 (3) | 605411 | 1p13.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Brugada Syndrome 1 | NM_004980 | 0.30 | 5 | 0 | CLINGEN |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
111846418
rs71580593
TCTGCTGCTGCTGCTGCTG
TCTGCTGCTGCTGCTGCTGCTGCTGCTG,TCTGCTGCTGCTGCTGCTGCTGCTG,TCTGCTGCTGCTGCTG,TCTGCTGCTGCTGCTGCTGCTG,T,TCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG
4538186.01
1
111846420
.
T
C
195044.93
1
111846422
.
C
A
129086.81
1
111846424
.
G
T
129055.64
1
111846426
.
T
G
126043.30
1
111846452
rs192330255
C
A
976.13
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
111846418
.
TCTG
T
.
1
111846418
.
TCTGCTG
T
.
1
111846418
.
TCTGCTGCTG
T
.
1
111846418
.
TCTGCTGCTGCTGCTGCTG
T
.
1
111846452
rs192330255
C
A
.
1
111846453
rs535302858
T
A
.